Canonical Allele Identifier: CA153208389

Gene: RNF216

Linked Data

• dbSNP Id: rs149328847
• gnomAD v2: 7-5681007-A-C
• gnomAD v4: 7-5641376-A-C
• MyVariant Identifiers: chr7:g.5681007A>C (hg19) ; chr7:g.5641376A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641376A>C , CM000669.2:g.5641376A>C	GRCh38
NC_000007.13:g.5681007A>C , CM000669.1:g.5681007A>C	GRCh37
NC_000007.12:g.5647533A>C	NCBI36
NG_029374.1:g.145355T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2160T>G MANE Select	ENSP00000374552.3:p.Ile720Met
ENST00000389900.8:c.*1277T>G	ENSP00000374550.4:n.*1277T>G
ENST00000389902.7:c.2160T>G	ENSP00000374552.3:p.Ile720Met
ENST00000425013.6:c.1989T>G	ENSP00000404602.2:p.Ile663Met
ENST00000469375.1:n.377T>G
ENST00000484458.2:n.464T>G
NM_207111.3:c.2160T>G	NP_996994.1:p.Ile720Met
NM_207116.2:c.1989T>G	NP_996999.1:p.Ile663Met
XM_005249785.2:c.2160T>G	XP_005249842.1:p.Ile720Met
XM_006715748.1:c.855T>G	XP_006715811.1:p.Ile285Met
XM_011515434.1:c.2160T>G	XP_011513736.1:p.Ile720Met
XM_011515436.1:c.855T>G	XP_011513738.1:p.Ile285Met
XM_011515436.2:c.855T>G	XP_011513738.1:p.Ile285Met
XM_017012363.2:c.1989T>G	XP_016867852.1:p.Ile663Met
XM_024446805.1:c.2160T>G	XP_024302573.1:p.Ile720Met
XM_024446806.1:c.855T>G	XP_024302574.1:p.Ile285Met
XM_024446807.1:c.855T>G	XP_024302575.1:p.Ile285Met
NM_001377156.1:c.1989T>G	NP_001364085.1:p.Ile663Met
NM_207111.4:c.2160T>G MANE Select	NP_996994.1:p.Ile720Met
NM_207116.3:c.1989T>G	NP_996999.1:p.Ile663Met